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    GABPA GA binding protein transcription factor subunit alpha [ Homo sapiens (human) ]

    Gene ID: 2551, updated on 9-Jun-2024

    Summary

    Official Symbol
    GABPAprovided by HGNC
    Official Full Name
    GA binding protein transcription factor subunit alphaprovided by HGNC
    Primary source
    HGNC:HGNC:4071
    See related
    Ensembl:ENSG00000154727 MIM:600609; AllianceGenome:HGNC:4071
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NFT2; NRF2; NRF2A; E4TF1A; E4TF1-60; RCH04A07
    Summary
    This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 13.9), endometrium (RPKM 11.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GABPA in Genome Data Viewer
    Location:
    21q21.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (25734972..25772460)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (24092535..24130020)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (27107283..27144771)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene junctional adhesion molecule 2 Neighboring gene uncharacterized LOC124905002 Neighboring gene ferredoxin 1 pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:27104507-27105344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13232 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:27107035-27107690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13234 Neighboring gene ATP synthase peripheral stalk subunit F6 Neighboring gene LLPH pseudogene 2 Neighboring gene uncharacterized LOC105372757 Neighboring gene uncharacterized LOC105372756

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Epigallocatechin-3-gallate (EGCG)-mediated inhibition of HIV-1 Tat-induced LTR transactivation involves activation of Nrf2 and AMPK signaling pathways and inhibition of AKT signaling pathway in MAGI cells PubMed
    tat Overexpression of Nrf2 or Keap1 knockdown by siRNA inhibits Tat-induced HIV-1 LTR transactivation in MAGI cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    GA-binding protein alpha chain
    Names
    GA binding protein transcription factor alpha subunit 60kDa
    GABP subunit alpha
    human nuclear respiratory factor-2 subunit alpha
    nuclear respiratory factor 2 alpha subunit
    nuclear respiratory factor 2 subunit alpha
    transcription factor E4TF1-60

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001197297.2NP_001184226.1  GA-binding protein alpha chain

      See identical proteins and their annotated locations for NP_001184226.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AP000226, BU683067, BX647755
      Consensus CDS
      CCDS13575.1
      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
      Related
      ENSP00000346886.3, ENST00000354828.7
      Conserved Domains (3) summary
      cd08534
      Location:168254
      SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
      smart00413
      Location:319403
      ETS; erythroblast transformation specific domain
      pfam11620
      Location:40119
      GABP-alpha; GA-binding protein alpha chain
    2. NM_002040.4NP_002031.2  GA-binding protein alpha chain

      See identical proteins and their annotated locations for NP_002031.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AI917898, AP000226, BC035031, BG542623, BX117934, BX647755, CB132898, CD674081, CV575645
      Consensus CDS
      CCDS13575.1
      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
      Related
      ENSP00000382948.3, ENST00000400075.4
      Conserved Domains (3) summary
      cd08534
      Location:168254
      SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
      smart00413
      Location:319403
      ETS; erythroblast transformation specific domain
      pfam11620
      Location:40119
      GABP-alpha; GA-binding protein alpha chain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      25734972..25772460
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028313.3XP_016883802.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
      Conserved Domains (3) summary
      cd08534
      Location:168254
      SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
      smart00413
      Location:319403
      ETS; erythroblast transformation specific domain
      pfam11620
      Location:40119
      GABP-alpha; GA-binding protein alpha chain
    2. XM_047440738.1XP_047296694.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
    3. XM_047440737.1XP_047296693.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
    4. XM_024452062.2XP_024307830.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
      Conserved Domains (3) summary
      cd08534
      Location:168254
      SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
      smart00413
      Location:319403
      ETS; erythroblast transformation specific domain
      pfam11620
      Location:40119
      GABP-alpha; GA-binding protein alpha chain
    5. XM_047440739.1XP_047296695.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
    6. XM_005260938.6XP_005260995.1  GA-binding protein alpha chain isoform X1

      See identical proteins and their annotated locations for XP_005260995.1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
      Conserved Domains (3) summary
      cd08534
      Location:168254
      SAM_PNT-GABP-alpha; Sterile alpha motif (SAM)/Pointed domain of GA-binding protein (GABP) alpha chain
      smart00413
      Location:319403
      ETS; erythroblast transformation specific domain
      pfam11620
      Location:40119
      GABP-alpha; GA-binding protein alpha chain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      24092535..24130020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324416.1XP_054180391.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
    2. XM_054324414.1XP_054180389.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
    3. XM_054324417.1XP_054180392.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
    4. XM_054324421.1XP_054180396.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
    5. XM_054324418.1XP_054180393.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
    6. XM_054324419.1XP_054180394.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
    7. XM_054324422.1XP_054180397.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
    8. XM_054324415.1XP_054180390.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3
    9. XM_054324420.1XP_054180395.1  GA-binding protein alpha chain isoform X1

      UniProtKB/Swiss-Prot
      Q06546, Q12939
      UniProtKB/TrEMBL
      A8IE48, B2R8X4, Q53FW7, Q8IYS3